gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.63839727 (MID)
Genomes Max Group AF
0.63218565 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.95226754G>A , CM000663.2:g.95226754G>A | GRCh38 |
| NC_000001.10:g.95692310G>A , CM000663.1:g.95692310G>A | GRCh37 |
| NC_000001.9:g.95464898G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000604203.1:c.118-4148G>A (TLCD4-RWDD3) | ||
| ENST00000604534.5:c.474-4148G>A (TLCD4-RWDD3) | ENSP00000475025.1:n.474-4148G>A | |
| NM_001199691.1:c.474-4148G>A (TLCD4-RWDD3) | NP_001186620.1:n.474-4148G>A | |
| NR_125948.1:n.284-4923C>T (RWDD3-DT) | ||
| NR_125949.1:n.284-4923C>T (RWDD3-DT) |